While the conversation at the forum was predictably wide-ranging, several distinct themes emerged.

Blurring the Lines. The forum featured three panel discussions: one on integrating personalized medicine into the clinic, one of the future of personal genomic research and a final panel on DTC personal genomics. Those three categories – clinical, research, commercial – make a great deal of conceptual sense for mapping the personal genomics landscape. But the actual panel discussions showed that lines between these categories have become increasingly blurred in recent months. Each panel quickly and repeatedly departed from its nominal area of focus to consider issues such as the role that DTC companies can play in genomic research or the distinctions between personalized medicine and personal genomics. Not surprisingly, the topics grabbing such cross-panel attention are among the very topics that will be featured in Washington next week.

Gathering the Data. One consequence of a complex, rapidly-evolving personal genomics landscape is a dearth of empirical data. Although Genetests.org lists over 2,000 genetic tests offered by nearly 600 laboratories, little is known about many of those tests, and many personal genomics products are not represented at all, including most (if not all) DTC genetic tests. Even less is known about who purchases personal genomics products (individuals, healthcare providers, healthcare payors, etc.), their reasons for doing so (for their own curiosity, to inform or to guide treatment decisions, etc.) or how personal genomic information is actually used once it is received. While some limited data has been collected and reported, including in Green et al.‘s REVEAL study and a paper from McGowan and Lambrix on early-adopter attitudes toward personal genomics, there is clearly a need for much more data describing personal genomics in practice. The NIH’s Genetic Testing Registry announced earlier this year is a step in the right direction, although as Daniel MacArthur and I have written elsewhere, a voluntary approach to personal genomics data-gathering may not be sufficient.

All Eyes on Washington. The timing of the policy forum meant that one of the most popular topics of conversation was predicting what will happen in Washington next week (and in the weeks and months that follow). Will the FDA push ahead with its proposal to regulate all LDTs as medical devices and, if so, what will that mean for the thousands of products on or nearing the market? Will one of several pieces of legislation floating around the halls of Congress, including the re-introduced Genomics and Personalized Medicine Act (GPMA) and Senator Hatch’s tongue-twisting “Better Evaluation and Treatment Through Essential Regulatory Reform for Patient Care Act” which would create a new regulatory category of Advanced Personalized Diagnostics (APDx) separate and distinct from either therapeutics or medical devices, attract sufficient support to advance in the legislative process?

While there are some who believe we have reached a turning point in the regulation of genetic testing, my own suspicion is that the upcoming FDA and House meetings will prove in time to be important—but not transformational—when it comes to the law and regulation of genomics and personalized medicine. Although the field of DTC genetic testing may be in its infancy, the much larger fields of genomics and personalized medicine—which include many other forms of genetic testing—have been around for decades. Questions concerning the proper framework of oversight have existed for nearly as long.

The long-running dispute over the FDA’s authority to regulate LDTsat all dates to at least 1992, and the on-again, off-again saga of the agency’s efforts to regulate a subset of high-complexity diagnostic tests (IVDMIAs) began officially in 2006 and is, at least for the moment, back on the shelf while the agency attempts to tackle all LDTs. And then there is the Genetic Information Nondiscrimination Act (GINA), the only piece of federal legislation expressly developed with the age of personal genomics in mind, but one which took as long as the Human Genome Project (13 years) to become law and is still – two years later – far from fully implemented. Looking back, it appears that the only consistent message that has emerged from Washington when it comes to the regulation of genomics and personalized medicine is that nothing will happen quickly.

P4 Regulation. It is possible that a significant legislative or regulatory change will emerge from Washington in the next few months and materially reshape the personal genomics landscape. But history tells us it is unlikely. Far more likely, it would seem, is that the discussion will continue on, with the FDA, Congress and other policymakers engaging stakeholders in an attempt to craft a system of oversight that balances legitimate concerns about the accuracy, efficacy and safety of advances in genomics and personalized medicine with the need to encourage continued progress and innovation in genomic-driven research, commerce and clinical care.

The keynote speaker at yesterday’s policy forum, Dr. Leroy Hood of the Institute for Systems Biology set out his familiar vision for transforming the future of healthcare: “P4 Medicine.” For Dr. Hood, the future of medicine is not only personalized, it is also predictive, preventive and participatory. To succeed, the regulation of genomics and personalized medicine will need to evolve in the same way and, in the end, find support from a legal and regulatory framework that is similarly predictable, personalized, preventive and participatory.

The first three Ps are of evident importance. Any reformed system of oversight must be predictable such that well-meaning researchers, healthcare providers, companies and investors can easily understand and fulfill their responsibilities and personalized to avoid shoe-horning new technologies into old regulatory pathways (e.g., the FDA’s current plan to classify increasingly data-driven diagnostic services as medical devices). It must also be preventive in the sense of being sufficiently robust to locate and remove inadequately vetted technologies and services, thereby preventing the type of bad outcome that could set back the entire field.

But it is the fourth P, participatory, that demands the most immediate action. From the FDA’s public meeting next week to the open call for comments on the NIH’s Genetic Testing Registry to myriad less formal channels, opportunities abound for researchers, clinicians, consumers, companies, investors and interested citizens to share their thoughts on what the future laws and regulations governing genomics and personalized medicine should look like. In a field defined by rapidly changing scientific knowledge, technology and commercial models, overburdened legislators, regulators and other policymakers have little choice but to look to those active in the field for guidance on how to proceed.

There can be little doubt that some form of additional oversight is coming to the fields of genomics and personalized medicine. But the regulatory process remains closer to the beginning than the end, with limitless outcomes (for better or for worse) still on the table. Later today I will head down the peninsula to Singularity U, home of futurists and entrepreneurs from all fields, to talk about the legal and regulatory framework for genomics and personalized medicine. My first question to them will be: what do you want that regulatory framework to look like? I put the same question to you, the reader, and invite you to contribute your thoughts below.

That whole issue of AJOB was about DTC testing issues (23andMe wrote the opening editorial).

For my part, I’d prefer that the industry be allowed to develop however it wants, and in the future when we figure out what went wrong, we can send time-traveling robots back to the present day to implement appropriate regulations and legislation.

I have a proposed interim solution for the FDA – declare genetic tests “restricted devices” under Section 520(e) of the Act and allow them to be provided only on a prescription from a doctor in a legitimate doctor-patient relationship with the person being tested. It is not a perfect solution, nor (necessarily) a permanent one, but it provides some interim protections while allowing medical uses to go forward. I just posted a longer discusssion of this idea on the Center for Law and the Biosciences blog.

It’s a real shame that the fate of the entire personal genomics industry seems likely to be determined without considering DNA ancestry tests. The tests are distinguishable from “health-related” tests but have been given inadequate attention in all of these debates. Perhaps from a consumer protection or bioethical standpoint it is wise to regulate all DTC genetic (recreational or health-related) tests the same, but such a determination deserves deliberate thought and consideration.

Hank, how would you determine which doctors have “legitimate” doctor-patient relationships with the individuals (whether you call them patients or consumers)? I think the folks at 23andMe know me and my medical history better than any of my physicians do.

Well, I hope the FDA will distinguish between genealogical tests and health-related tests (though the genealogical tests have their own consumer protection problems – see Henry T. Greely, Genetic Genealogy: Genetics Meets the Marketplace, in REVISITING RACE IN A GENOMIC AGE 271-299 (eds. Barbara A. Koenig, Sandra Soo-Jin Lee, and Sarah Richardson; Rutgers University Press, 2008)).

Your question about legitimate doctor-patient relationship is a good one, but not a new one. That’s the test the federal and various state governments try to use with respect to “pill mills,” overprescribing drugs that can be abused, and internet-based prescriptions. Taking a history and doing an examination are generally viewed as good rules of thumb for such a relationship. From my (legal) perspective the key is that a physician who claims a legitimate doctor-patient relationship for the purposes of writing a prescription is then on the hook for malpractice liability with regard to at least that prescription. That should make the doctors pay some attention to the results.

If the people at 23andMe know your medical history better than your physician does, you should change physicians. And you should not be confident that the good people at 23andMe (I don’t mean that sarcastically – I disagree with the company’s business model, but I know several of the people and think very well of them) know enough about medicine to help you if a health issue arises.

GLR Editor

John Conley is Kenan Professor of Law at the University of North Carolina and of counsel to Robinson, Bradshaw & Hinson, where he specializes in intellectual property and biotechnology.
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